Canonical Allele Identifier: CA2065412984
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1876869925

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115975413C>T , CM000674.2:g.115975413C>T GRCh38
NC_000012.11:g.116413218C>T , CM000674.1:g.116413218C>T GRCh37
NC_000012.10:g.114897601C>T NCBI36
NG_023366.1:g.306774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5589-100G>A MANE Select ENSP00000281928.3:n.5589-100G>A
ENST00000548694.2:n.479G>A
ENST00000648379.1:n.3957-100G>A
ENST00000648737.1:n.5353-100G>A
ENST00000648825.1:n.3774-100G>A
ENST00000648916.1:n.3600-100G>A
ENST00000649607.1:c.3773-100G>A
ENST00000649775.1:c.2078-100G>A
ENST00000650226.1:c.5589-64G>A ENSP00000496981.1:n.5589-64G>A
ENST00000281928.7:c.5589-100G>A ENSP00000281928.3:n.5589-100G>A
ENST00000548694.1:n.479G>A
ENST00000552447.1:c.166-64G>A
NM_015335.4:c.5589-100G>A NP_056150.1:n.5589-100G>A
XM_011538080.1:c.5589-64G>A XP_011536382.1:n.5589-64G>A
XM_011538081.1:c.5586-64G>A XP_011536383.1:n.5586-64G>A
XM_011538082.1:c.5559-64G>A XP_011536384.1:n.5559-64G>A
XM_011538080.2:c.5589-64G>A XP_011536382.1:n.5589-64G>A
XM_011538081.2:c.5586-64G>A XP_011536383.1:n.5586-64G>A
XM_011538082.2:c.5559-64G>A XP_011536384.1:n.5559-64G>A
XM_017019090.1:c.5586-100G>A XP_016874579.1:n.5586-100G>A
NM_015335.5:c.5589-100G>A MANE Select NP_056150.1:n.5589-100G>A